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Article

Phenotypic and molecular characterization of the exon 13-15 duplication in LDLR: Implications for familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2025

Abarzúa Diego, Radojkovic Claudia, Quintana Santiago, Martínez Catalina, Barriga Natalia, Alonso Rodrigo, Guzman Enrique, Burgos Carlos Felipe, Sánchez Andrea

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol, significantly increasing the risk of premature cardiovascular disease. Major rearrangements were among the first mutations identified in the low-density lipoprotein receptor (LDLR) gene and currently comprise approximately 10% of FH-causing variants. One of them is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40753061
DOI: 10.1016/j.jacl.2025.06.023

Genes

LDLR
FH
CD14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Phenotypic and molecular characterization of the exon 13-15 duplication in LDLR: Implications for familial hypercholesterolemia.PMID 40753061Read ↗

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